A98P (p.Ala98Pro) variant of SCN1A (P35498)
A98P (p.Ala98Pro) in SCN1A (P35498) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DRVT. The record also includes published literature and structural context.
A98P (p.Ala98Pro) variant details
- p.Ala98Pro
- UniProt VAR 073447
- Pathogenic
- in DRVT
- Missense
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Genotype-phenotype associations in SCN1A-related epilepsies. (PMID 21248271)
- Cited in: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (PMID 11359211)